Hena Jose

Exploring healthcare, digitalhealth, genomics, Lifesciences and Data Science
Mother to two wonderful daughters and a Catholic

Own a Blog:

[Catholic Quotes @CatholicQuote12]

"The Rosary has become an important part of my daily prayer life, drawing me closer to Christ through His Mother."

Actor Jonathan Roumie

[Hena Jose @henagils]

@Sachinettiyil Thank you. Enrolled for Becoming a Saint: Wisdom from Aquinas

[Hena Jose @henagils]

https://t.co/bM5T1jFB4C

[PacBio @PacBio]

A new @NatureGenet piece from @radboudumc outlines Near-Perfect Genome Sequencing (NPGS): a framework combining long-reads, diploid assembly, pangenomes, and AI to shift from fragmented testing to a single comprehensive genomic assay.

Read more here: https://t.co/r5X2mV7d3t

[Ascension @AscensionPress]

Through Christ, God reveals that his mercy is greater than our individual sins and even than those of the entire world. https://t.co/Gc66zvMUQd

[EWTN Vatican @EWTNVatican]

Pope Leo XIV has released his prayer intention for April, inviting Catholics around the world to pray for priests facing moments of crisis in their vocation:

In the name of the Father, and of the Son, and of the Holy Spirit. Amén.

Lord Jesus,
Good Shepherd and companion on the journey,
today we place in your hands all priests,
especially those going through moments of crisis,
when loneliness weighs heavily,
when doubt clouds their hearts,
and when exhaustion seems stronger than hope.

You who know their struggles and wounds,
renew in them the certainty of your unconditional love.
Let them feel they are not mere functionaries or lonely heroes,
but beloved sons, humble and cherished disciples,
and pastors sustained by the prayer of their people.

Good Father,
teach us as a community to care for our priests:
to listen without judging,
to give thanks without demanding perfection,
to share with them the baptismal mission
of proclaiming the Kingdom in word and deed,
and to accompany them with closeness and sincere prayer.
May we support those who so often support us.

Holy Spirit,
rekindle in our priests the joy of the Gospel.
Grant them healthy friendships, networks of fraternal support,
a sense of humor when things don’t go as expected,
and the grace to always rediscover the beauty of their vocation.
May they never lose trust in You,
nor the joy of serving your Church with a humble and generous heart.

Amen.

[Nature Reviews Genetics @NatureRevGenet]

📢 Our April issue is live! https://t.co/MHgNQkfJL3
Reviews include: proteoform medicine; statistical methods to identify pleiotropy; the molecular evolution of parenting and sociality; how to monitor the biological effects of genome editing across scales

[That Catholic Guy 🇻🇦 @Catholic_bro]

Good advice for lent

[Dan Camacho @discovercamacho]

@NikoMcCarty I hope this helps...

[Forbes @Forbes]

"We need to treat every person with the notion of what their individual biology is."

Serge Saxonov, cofounder and CEO at 10x Genomics, spoke about current developments in biology at the #ForbesHealth Summit.
https://t.co/Kya2dmUf6U

[Marios Georgakis @MariosGeorgakis]

Now UK Biobank offers Nightingale metabolomics (250 metabolites) for the whole cohort (N=500,000), including 20,000 repeat measurements.

Looking back in a few years, I think UKB will stand out as the initiative that taught us the importance of scale for biological discoveries.

[Veera Rajagopal  @doctorveera]

Enjoyed reading the recent paper from gnomAD team on the modifiers of penetrance of clinically-relevant variants in 800k individuals in the gnomAD database.

One example highlighted in the paper is extremely fascinating!

It's a beautiful example of a loss of function (LOF) variant converting a pathogenic gain of function (GOF) into a benign variant.

GJB2 encodes connexin 26, a gap junction protein that helps with cell-to-cell communication. This protein is highly expressed in cochlea, skin, cornea, among others.

GJB2 is a well known hearing loss gene. Complete deficiency of GJB2 caused by homozygous LOF mutations causes autosomal recessive, non-syndromic hearing loss.

There is also a rare syndrome called KID syndrome (Keratitis, Ichthyosis, deafness) caused by GJB2 mutations. This is a autosomal dominant condition caused by rare, heterozygous gain of function mutations (mostly de novo).

In the gnomAD database, the authors found around 4000 pathogenic or likely pathogenic ClinVar variants in ~31k individuals. The authors investigated why these pathogenic variants are seen in the healthy individuals, looking specifically for disease modifying variants.

One of the ClinVar pathogenic variants observed in 35 gnomAD individuals was a rare GOF missense variant p.Gly45Glu in GJB2, previously reported to cause KID syndrome.

On a closer look, the authors found that almost all (34 out of 35) carried a protein-truncating LOF (p.Tyr136Ter) in cis, i.e., on the same chromosome as the GOF variant.

What happened is the LOF truncated the last part of the GJB2 protein that forms 4th transmembrane domain, which is critical for the mature protein to oligomerize with other GJB2 proteins to form the ion channel.

In the absence of LOF, the missense GOF exerts a toxic dominant negative effect on the oligomerized proteins resulting in KID syndrome. But in the presence of LOF, the GOF-carrying GJB2 truncated protein doesn't participate in oligomerization and so, doesn't become toxic.

It turns out, all the 34 individuals carrying both the variants in cis are of East Asian ancestry and based on a previous report, this haplotype is seen in nearly 11,000 individuals in Japan.

Reading this paper took me to another paper published in 2014 by Japanese researchers, where they report an extreme case of a mother with this haplotype giving birth a child with only the GOF variant resulting in KID syndrome.

The authors describe this as a reversion event where the "safety lock" (i.e. the protective LOF) is removed from the "Pandora's box" (i.e. the haplotype) unleashing the lethal GOF to express.

It seems due to a rare gene conversion event in the maternal meiosis, the LOF was kicked out from the chromosome that child got from the mother, leaving behind only the GOF to cause disease. Absolutely wild!

References:

Gudmundsson et al. Nat Comm 2025
https://t.co/ferzdpNAyW

Ogawa et al. PLoS Genet 2014
https://t.co/Q70w5RFKIx

[Eric Topol @EricTopol]

Towards genome editing for mitochondrial diseases
https://t.co/2zh3OZwg4J

[The Nobel Prize @NobelPrize]

BREAKING NEWS
The 2025 #NobelPrize in Physiology or Medicine has been awarded to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi “for their discoveries concerning peripheral immune tolerance.”

[𝚕𝚒𝚝𝚝𝚕𝚎 𝚘𝚗𝚎 ♱🇻🇦 @BillArnoldTeach]

Seat of Wisdom, pray for us.

[Hena Jose @henagils]

@TempusFugit4016 Oh what a beautiful writing on Mama Mary being Immaculate. When angel Gabriel calls Mary "full of grace" (kecharitomene), suggesting a unique, permanent state of divine favor that implies freedom from original sin, the only one in the Bible to be addressed that way by heaven

[Hena Jose @henagils]

@Totvs_tuus51320 This image is so powerful. Jesus who suffered for me and Jesus, King of Universe.

[Genomics Education @genomicsedu]

ICYMI: Why are eight #HealthyBabies causing such a stir in the world of #GenomicMedicine and #RareDisease? Find out in this week’s blog: https://t.co/qATx3Qwstg

[Oxford Nanopore @nanopore]

When traditional sequencing ran out of answers, Gulsuner and AbuRayyan turned to Oxford Nanopore sequencing to uncover hidden deep intronic variants driving cancer.

Learn more: https://t.co/HyJzOZJFkh

[Nature Reviews Genetics @NatureRevGenet]

New online! Tracing the evolution of sequencing into the era of genomic medicine https://t.co/mAhT649ULI